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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 8-133264630-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=133264630&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
  "variants": [
    {
      "chr": "8",
      "pos": 133264630,
      "ref": "T",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "ENST00000323851.13",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG1",
          "gene_hgnc_id": 7679,
          "hgvs_c": "c.-77A>C",
          "hgvs_p": null,
          "transcript": "ENST00000522476.5",
          "protein_id": "ENSP00000427894.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 328,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 987,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1385,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG1",
          "gene_hgnc_id": 7679,
          "hgvs_c": "c.122A>C",
          "hgvs_p": "p.His41Pro",
          "transcript": "NM_006096.4",
          "protein_id": "NP_006087.2",
          "transcript_support_level": null,
          "aa_start": 41,
          "aa_end": null,
          "aa_length": 394,
          "cds_start": 122,
          "cds_end": null,
          "cds_length": 1185,
          "cdna_start": 259,
          "cdna_end": null,
          "cdna_length": 3025,
          "mane_select": "ENST00000323851.13",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG1",
          "gene_hgnc_id": 7679,
          "hgvs_c": "c.122A>C",
          "hgvs_p": "p.His41Pro",
          "transcript": "ENST00000323851.13",
          "protein_id": "ENSP00000319977.8",
          "transcript_support_level": 1,
          "aa_start": 41,
          "aa_end": null,
          "aa_length": 394,
          "cds_start": 122,
          "cds_end": null,
          "cds_length": 1185,
          "cdna_start": 259,
          "cdna_end": null,
          "cdna_length": 3025,
          "mane_select": "NM_006096.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG1",
          "gene_hgnc_id": 7679,
          "hgvs_c": "c.-77A>C",
          "hgvs_p": null,
          "transcript": "ENST00000522476.5",
          "protein_id": "ENSP00000427894.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 328,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 987,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1385,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG1",
          "gene_hgnc_id": 7679,
          "hgvs_c": "c.-77A>C",
          "hgvs_p": null,
          "transcript": "NM_001258432.2",
          "protein_id": "NP_001245361.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 328,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 987,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2908,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG1",
          "gene_hgnc_id": 7679,
          "hgvs_c": "c.-77A>C",
          "hgvs_p": null,
          "transcript": "NM_001374847.1",
          "protein_id": "NP_001361776.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 328,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 987,
          "cdna_start": null,
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          "cdna_length": 2944,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG1",
          "gene_hgnc_id": 7679,
          "hgvs_c": "c.-77A>C",
          "hgvs_p": null,
          "transcript": "ENST00000518480.5",
          "protein_id": "ENSP00000428802.1",
          "transcript_support_level": 4,
          "aa_start": null,
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          "aa_length": 99,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 300,
          "cdna_start": null,
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          "cdna_length": 558,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "NDRG1",
          "gene_hgnc_id": 7679,
          "hgvs_c": "c.-77A>C",
          "hgvs_p": null,
          "transcript": "ENST00000523892.5",
          "protein_id": "ENSP00000430171.1",
          "transcript_support_level": 4,
          "aa_start": null,
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          "aa_length": 41,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        },
        {
          "aa_ref": "H",
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          "strand": false,
          "consequences": [
            "missense_variant"
          ],
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          "gene_symbol": "NDRG1",
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          "hgvs_c": "c.122A>C",
          "hgvs_p": "p.His41Pro",
          "transcript": "NM_001374844.1",
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        {
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        {
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          "intron_rank": null,
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          "gene_symbol": "NDRG1",
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          "gene_symbol": "NDRG1",
          "gene_hgnc_id": 7679,
          "hgvs_c": "c.36+19646A>C",
          "hgvs_p": null,
          "transcript": "ENST00000518066.5",
          "protein_id": "ENSP00000431057.1",
          "transcript_support_level": 5,
          "aa_start": null,
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          "aa_length": 103,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 312,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 560,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "NDRG1",
          "gene_hgnc_id": 7679,
          "hgvs_c": "n.100-2463A>C",
          "hgvs_p": null,
          "transcript": "ENST00000517599.5",
          "protein_id": "ENSP00000429172.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2918,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "NDRG1",
      "gene_hgnc_id": 7679,
      "dbsnp": "rs2233318",
      "frequency_reference_population": 0.0000012391405,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 2,
      "gnomad_exomes_af": 6.84049e-7,
      "gnomad_genomes_af": 0.00000657298,
      "gnomad_exomes_ac": 1,
      "gnomad_genomes_ac": 1,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.6546897888183594,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.251,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.6273,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.17,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 3.079,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 2,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2",
      "acmg_by_gene": [
        {
          "score": 2,
          "benign_score": 0,
          "pathogenic_score": 2,
          "criteria": [
            "PM2"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000323851.13",
          "gene_symbol": "NDRG1",
          "hgnc_id": 7679,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.122A>C",
          "hgvs_p": "p.His41Pro"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}